(Q50218362)

27 February 2018

title

Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature. (English)

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27 February 2018

author name string

Elsebet Ostergaard

1

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27 February 2018

Woranontee Weraarpachai

2

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27 February 2018

Kirstine Ravn

3

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27 February 2018

Alfred Peter Born

4

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27 February 2018

Lars Jønson

5

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27 February 2018

Morten Duno

6

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27 February 2018

Flemming Wibrand

7

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27 February 2018

Eric A Shoubridge

8

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27 February 2018

John Vissing

9

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27 February 2018

language of work or name

English

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publication date

20 January 2015

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27 February 2018

Journal of Medical Genetics

published in

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27 February 2018

volume

52

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27 February 2018

issue

3

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27 February 2018

page(s)

203-207

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27 February 2018

A stop-codon mutation in the human mtDNA cytochrome c oxidase I gene disrupts the functional structure of complex IV.

cites work

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102914

An mtDNA mutation in the initiation codon of the cytochrome C oxidase subunit II gene results in lower levels of the protein and a mitochondrial encephalomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102914

A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102914

Exocrine pancreatic insufficiency, dyserythropoeitic anemia, and calvarial hyperostosis are caused by a mutation in the COX4I2 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102914

Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102914

Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102914

SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102914

A mutation in C2orf64 causes impaired cytochrome c oxidase assembly and mitochondrial cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102914

A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102914

Mutations in COA6 cause cytochrome c oxidase deficiency and neonatal hypertrophic cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102914

Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102914

Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102914

Mutations in C12orf62, a factor that couples COX I synthesis with cytochrome c oxidase assembly, cause fatal neonatal lactic acidosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102914

Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102914

A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102914

Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102914

Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102914

A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102914

FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102914

Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102914

Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102914

Blue native electrophoresis for isolation of membrane protein complexes in enzymatically active form

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102914

A mitochondrial protein compendium elucidates complex I disease biology

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102914

hCOA3 stabilizes cytochrome c oxidase 1 (COX1) and promotes cytochrome c oxidase assembly in human mitochondria.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102914

MITRAC links mitochondrial protein translocation to respiratory-chain assembly and translational regulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102914

Coiled coil domain-containing protein 56 (CCDC56) is a novel mitochondrial protein essential for cytochrome c oxidase function

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102914

Novel Mutations in the PC Gene in Patients with Type B Pyruvate Carboxylase Deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102914

Expression and functional analysis of SURF1 in Leigh syndrome patients with cytochrome c oxidase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102914

Human SCO2 is required for the synthesis of CO II and as a thiol-disulphide oxidoreductase for SCO1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102914

SURF1 deficiency: a multi-centre natural history study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102914

Coa3 and Cox14 are essential for negative feedback regulation of COX1 translation in mitochondria

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102914

Biomarkers of mitochondrial content in skeletal muscle of healthy young human subjects

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102914

10.1136/JMEDGENET-2014-102914

21 January 2018

Identifiers

DOI

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27 February 2018

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27 February 2018